크로모도메인-헬리카제-DNA 결합 단백질 4는 인간 에서 CHD4 유전자 에 의해 암호화된 효소 다.[5] [6] [7]
함수 이 유전자의 산물은 SNF2/RAD54 헬리카아제 계열에 속한다. 뉴클레오솜 리모델링과 탈세틸라제 복합체의 주요 성분을 나타내며 후생유전사 억제에 중요한 역할을 한다. 피부염 환자들은 이 단백질에 대한 항체를 발달시킨다.[7]
상호작용 CHDD4는 HDAC1 ,[8] [9] [10] 히스톤 디아세틸라제 [10] [11] [12] MTA2 ,[8] SATB1 [13] 아탁시아 텔랑기텍타시아 및 Rad3 와 상호작용 을 하는 것으로 나타났다.[12]
임상적 이 유전자의 돌연변이는 시프림-히츠-와이스 증후군 으로 알려진 질환과 관련이 있다.[14] 이 조건은 다음과 같은 특징이 있다.
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000111642 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000063870 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Seelig HP, Moosbrugger I, Ehrfeld H, Fink T, Renz M, Genth E (Oct 1995). "The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation". Arthritis and Rheumatism . 38 (10): 1389–99. doi :10.1002/art.1780381006 . PMID 7575689 . ^ Seelig HP, Renz M, Targoff IN, Ge Q, Frank MB (Oct 1996). "Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen" . Arthritis and Rheumatism . 39 (10): 1769–71. doi :10.1002/art.1780391029 PMID 8843877 . ^ a b "Entrez Gene: CHD4 chromodomain helicase DNA binding protein 4" .^ a b Yao YL, Yang WM (Oct 2003). "The metastasis-associated proteins 1 and 2 form distinct protein complexes with histone deacetylase activity" . The Journal of Biological Chemistry . 278 (43): 42560–8. doi :10.1074/jbc.M302955200 PMID 12920132 . ^ Grozinger CM, Hassig CA, Schreiber SL (Apr 1999). "Three proteins define a class of human histone deacetylases related to yeast Hda1p" . Proceedings of the National Academy of Sciences of the United States of America . 96 (9): 4868–73. doi :10.1073/pnas.96.9.4868 PMC 21783 PMID 10220385 . ^ a b Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature . 395 (6705): 917–21. doi :10.1038/27699 . PMID 9804427 . S2CID 4355885 . ^ Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes" . The Journal of Biological Chemistry . 278 (9): 7234–9. doi :10.1074/jbc.M208992200 PMID 12493763 . ^ a b Schmidt DR, Schreiber SL (Nov 1999). "Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4". Biochemistry . 38 (44): 14711–7. CiteSeerX 10.1.1.559.7745 doi :10.1021/bi991614n . PMID 10545197 . ^ Yasui D, Miyano M, Cai S, Varga-Weisz P, Kohwi-Shigematsu T (Oct 2002). "SATB1 targets chromatin remodelling to regulate genes over long distances" . Nature . 419 (6907): 641–5. doi :10.1038/nature01084 . PMID 12374985 . S2CID 25822700 . ^ Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA11,12, Kenney A11, Hove H13, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker M, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM34, Muenke M5, Wade PA, Lachlan K (2019) The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis .Genet Med.
외부 링크 추가 읽기 Denslow SA, Wade PA (Aug 2007). "The human Mi-2/NuRD complex and gene regulation" . Oncogene . 26 (37): 5433–8. doi :10.1038/sj.onc.1210611 PMID 17694084 . Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN (Oct 1995). "Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen" . The Journal of Clinical Investigation . 96 (4): 1730–7. doi :10.1172/JCI118218 . PMC 185809 PMID 7560064 . Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Oct 1997). "Characterization of the CHD family of proteins" . Proceedings of the National Academy of Sciences of the United States of America . 94 (21): 11472–7. doi :10.1073/pnas.94.21.11472 PMC 23509 PMID 9326634 . Zhang Y, LeRoy G, Seelig HP, Lane WS, Reinberg D (Oct 1998). "The dermatomyositis-specific autoantigen Mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activities" . Cell . 95 (2): 279–89. doi :10.1016/S0092-8674(00)81758-4 PMID 9790534 . S2CID 18786866 . Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature . 395 (6705): 917–21. doi :10.1038/27699 . PMID 9804427 . S2CID 4355885 . Zhang Y, Ng HH, Erdjument-Bromage H, Tempst P, Bird A, Reinberg D (Aug 1999). "Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation" . Genes & Development . 13 (15): 1924–35. doi :10.1101/gad.13.15.1924 . PMC 316920 PMID 10444591 . Schmidt DR, Schreiber SL (Nov 1999). "Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4". Biochemistry . 38 (44): 14711–7. CiteSeerX 10.1.1.559.7745 doi :10.1021/bi991614n . PMID 10545197 . Humphrey GW, Wang Y, Russanova VR, Hirai T, Qin J, Nakatani Y, Howard BH (Mar 2001). "Stable histone deacetylase complexes distinguished by the presence of SANT domain proteins CoREST/kiaa0071 and Mta-L1" . The Journal of Biological Chemistry . 276 (9): 6817–24. doi :10.1074/jbc.M007372200 PMID 11102443 . Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI (Jan 2002). "Directed proteomic analysis of the human nucleolus" . Current Biology . 12 (1): 1–11. doi :10.1016/S0960-9822(01)00650-9 PMID 11790298 . S2CID 14132033 . Koipally J, Georgopoulos K (Aug 2002). "A molecular dissection of the repression circuitry of Ikaros" . The Journal of Biological Chemistry . 277 (31): 27697–705. doi :10.1074/jbc.M201694200 PMID 12015313 . Saito M, Ishikawa F (Sep 2002). "The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2" . The Journal of Biological Chemistry . 277 (38): 35434–9. doi :10.1074/jbc.M203455200 PMID 12124384 . Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes" . The Journal of Biological Chemistry . 278 (9): 7234–9. doi :10.1074/jbc.M208992200 PMID 12493763 . Kwan AH, Gell DA, Verger A, Crossley M, Matthews JM, Mackay JP (Jul 2003). "Engineering a protein scaffold from a PHD finger" . Structure . 11 (7): 803–13. doi :10.1016/S0969-2126(03)00122-9 PMID 12842043 . Shimono Y, Murakami H, Kawai K, Wade PA, Shimokata K, Takahashi M (Dec 2003). "Mi-2 beta associates with BRG1 and RET finger protein at the distinct regions with transcriptional activating and repressing abilities" . The Journal of Biological Chemistry . 278 (51): 51638–45. doi :10.1074/jbc.M309198200 PMID 14530259 . Williams CJ, Naito T, Arco PG, Seavitt JR, Cashman SM, De Souza B, Qi X, Keables P, Von Andrian UH, Georgopoulos K (Jun 2004). "The chromatin remodeler Mi-2beta is required for CD4 expression and T cell development" . Immunity . 20 (6): 719–33. doi :10.1016/j.immuni.2004.05.005 PMID 15189737 . Lehner B, Sanderson CM (Jul 2004). "A protein interaction framework for human mRNA degradation" . Genome Research . 14 (7): 1315–23. doi :10.1101/gr.2122004 . PMC 442147 PMID 15231747 .
PDB 갤러리
1mm2 : Mi2b에서 두 번째 PHD 도메인의 솔루션 구조
